Hyperlysinemia without clinical findings.
A three-year-old asymptomatic boy with hyperlysinemia is presented. The patient's plasma lysine levels have been constantly high (685-1370 mumol/l) and excessive urinary excretion of ornithine, arginine and cystine have been noted. There was no detectable activity of lysine-ketoglutarate reductase nor saccharopine dehydrogenase in skin fibroblast culture. Review of the reported cases and this patient with serious biochemical defect but without symptoms indicate clinical heterogeneity in hereditary hyperlysinemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000652:urine; D002675:Child, Preschool; D006801:Humans; D008239:Lysine / Q000097:blood*; D008297:Male
D008239:Lysine